Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
Couture
P
P
Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec, Canada.
Vohl
M C
MC
Gagné
C
C
Gaudet
D
D
Torres
A L
AL
Lupien
P J
PJ
Després
J P
JP
Labrie
F
F
Simard
J
J
Moorjani
S
S
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002170:Canada; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005602:France / Q000208:ethnology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL; D004247:DNA